A novel heterozygous complex mutation of CYP21 gene may cause non-classical 21-hydroxylase deficiency / 中华内分泌代谢杂志

ABSTRACT

Objective To investigate the clinical and genetic characteristics of a case with non-classical 21-hydroxylase deficiency(210HD).Methods Clinical features and laboratory data were obtained from a patient with non-c]assical 21OHD,and the promoter and coding areas of CYP21 gene were sequenced.Results The old female patient presented with hypertension.The laboratory examinations showed that plasma androstenedione, testosterone,progesterone and 17-hydroxy progesterone(17OHP)were increased.CT scan revealed bilateral adrenal nodular enlargement.Furthermore,rapid ACTH stimulation test showed that the plasma 17OHP concentration was further increased up to 68.3?g/L.Sequencing analysis showed a C1187T(R356W) substitution at exon 8 and the C-125T,G-112A,T-109C variations in the promoter of CYP21 gene,which was not previous reported.Conclusion The combined heterozygous mutations,Cl187T at exon 8 and C-125T,G -112A,T-109C in promoter,seem to be associated with non-classical 21OHD phenotype.